title: Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis.
abstract: We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis and 108 controls) and in general ankylosing spondylitis (AS) patients (n = 137) vs random controls (n = 139). Both single nucleotide polymorphisms (SNPs) were associated with the risk of spondyloarthritis [odds ratio (OR) 1.80, 95% confidence interval (CI) 1.24-2.62, P = 0.001 for rs30187, OR 1.58, 95% CI 1.07-2.34, P = 0.02 for rs27044]. The CC haplotype was a protective factor (P = 0.002), while the TG haplotype was a risk factor (P = 0.01) for spondyloarthritis. The SNP rs30187 was also associated with the risk of HLA-B27+ AS. For the general group of AS, the carriers of minor alleles showed an increased risk for the disease (OR 1.92, 95% CI 1.17-3.13 for rs30187, OR 1.74, 95% CI 1.08-2.80 for rs27044). This is the first study that shows the association of ERAP1 gene variants and haplotypes with HLA-B27 positive spondyloarthritis.
authors.affiliation: Department of Immunology and Pathophysiology, Faculty of Medicine, University "Carol Davila", Bucharest, Romania.
authors.forename: M
authors.initials: M
authors.lastname: Cherciu
authors.forename: L O
authors.initials: LO
authors.lastname: Popa
authors.forename: M
authors.initials: M
authors.lastname: Bojinca
authors.forename: M I
authors.initials: MI
authors.lastname: Dutescu
authors.forename: V
authors.initials: V
authors.lastname: Bojinca
authors.forename: C
authors.initials: C
authors.lastname: Bara
authors.forename: O M
authors.initials: OM
authors.lastname: Popa
mesh_terms: D000328:Adult; D000626:Aminopeptidases / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D015778:Minor Histocompatibility Antigens; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013167:Spondylitis, Ankylosing / Q000235:genetics*
chemical_list: D015796:HLA-B27 Antigen; D015778:Minor Histocompatibility Antigens; D000626:Aminopeptidases; C464841:ERAP1 protein, human
keywords: ERAP1; HLA-B27; ankylosing spondylitis; spondyloarthritis